Canonical Allele Identifier: CA2695208647

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958420_150958453del , CM000669.2:g.150958420_150958453del	GRCh38
NC_000007.13:g.150655508_150655541del , CM000669.1:g.150655508_150655541del	GRCh37
NC_000007.12:g.150286441_150286474del	NCBI36
NG_008916.1:g.24477_24510del , LRG_288:g.24477_24510del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1358_1391del
ENST00000262186.10:c.525_558del MANE Select	ENSP00000262186.5:p.Arg176AlafsTer14
ENST00000262186.9:c.525_558del	ENSP00000262186.5:p.Arg176AlafsTer14
ENST00000430723.4:c.235-58_235-25del	ENSP00000387657.4:n.235-58_235-25del
ENST00000532957.5:n.748_781del
NM_000238.3:c.525_558del , LRG_288t1:c.525_558del	NP_000229.1:p.Arg176AlafsTer14
NM_172056.2:c.525_558del , LRG_288t2:c.525_558del	NP_742053.1:p.Arg176AlafsTer14
XM_011516185.1:c.225_258del	XP_011514487.1:p.Arg76AlafsTer14
XM_011516186.1:c.525_558del	XP_011514488.1:p.Arg176AlafsTer14
XM_011516185.2:c.225_258del	XP_011514487.1:p.Arg76AlafsTer14
XM_011516186.3:c.525_558del	XP_011514488.1:p.Arg176AlafsTer14
XM_017012195.1:c.375_408del	XP_016867684.1:p.Arg126AlafsTer14
XM_017012196.1:c.348_381del	XP_016867685.1:p.Arg117AlafsTer14
NM_000238.4:c.525_558del MANE Select	NP_000229.1:p.Arg176AlafsTer14